Related gene-specific medical variations for Gene (Select 652) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063322	GRCh37/hg19 14q22.2(chr14:54361222-54823763)x1	BMP4	Copy number loss	not specified	GPathogenic
Select item 3050720	NM_001202.6(BMP4):c.-335G>C	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	BMP4-related disorder	GLikely benign
Select item 3044168	NM_001202.6(BMP4):c.-365C>G	BMP4, LOC109433677 (S13R)	Single nucleotide variant (5 prime UTR variant +1 more)	BMP4-related disorder	GUncertain significance
Select item 2439534	NM_001202.6(BMP4):c.43C>G (p.Gln15Glu)	BMP4 (Q15E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439533	NM_001202.6(BMP4):c.101A>G (p.Lys34Arg)	BMP4 (K34R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1192500	NM_001202.6(BMP4):c.-132-117A>G	BMP4, LOC109433677	Single nucleotide variant (intron variant)	Microphthalmia with brain and digit anomalies	GBenign
Select item 1071168	NC_000014.8:g.(?_54416336)_54418690del	BMP4	Deletion	Orofacial cleft 11 +1 more	GPathogenic
Select item 882794	NM_001202.6(BMP4):c.-329T>C	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 11	GUncertain significance
Select item 882793	NM_001202.6(BMP4):c.-251C>G	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 11	GUncertain significance
Select item 881630	NM_001202.6(BMP4):c.-155G>A	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Microphthalmia with brain and digit anomalies +1 more	GBenign/Likely benign
Select item 807114	NM_001202.6(BMP4):c.635G>A (p.Trp212Ter)	BMP4 (W149* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 633667	NM_001202.6(BMP4):c.450C>G (p.Asn150Lys)	BMP4 (N150K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591703	NM_001202.6(BMP4):c.197G>A (p.Gly66Glu)	BMP4 (G66E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562181	NM_001202.6(BMP4):c.614T>C (p.Val205Ala)	BMP4 (V205A +2 more)	Single nucleotide variant (missense variant)	Low bone mineral density +1 more	GUncertain significance
Select item 562180	NM_001202.6(BMP4):c.58G>A (p.Gly20Ser)	BMP4 (G20S +1 more)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis	GUncertain significance
Select item 549638	NC_000014.8:g.54195768_54215968del20201	BMP4, LINC02331	Deletion	Primary amenorrhea	GUncertain significance
Select item 313356	NM_001202.6(BMP4):c.-342G>A	BMP4, LOC109433677 (R21K)	Single nucleotide variant (5 prime UTR variant +1 more)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GUncertain significance
Select item 313355	NM_001202.6(BMP4):c.-146T>C	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GBenign/Likely benign
Select item 29615	NC_000014.9:g.(53815591_53825260)_(53983697_53984391)del	BMP4	Deletion	Microphthalmia with brain and digit anomalies	GPathogenic